ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004347 (EAS)
Exomes Max Group AF
0.00003348 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610823C>A , CM000668.2:g.1610823C>A | GRCh38 |
| NC_000006.11:g.1611058C>A , CM000668.1:g.1611058C>A | GRCh37 |
| NC_000006.10:g.1556057C>A | NCBI36 |
| NG_009368.1:g.5378C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.378C>A MANE Select | ENSP00000493906.1:p.Ile126= | |
| ENST00000380874.3:c.378C>A | ENSP00000370256.2:p.Ile126= | |
| NM_001453.2:c.378C>A | NP_001444.2:p.Ile126= | |
| NM_001453.3:c.378C>A MANE Select | NP_001444.2:p.Ile126= |